What is true about Alfa 1 antitrypsin deficiency?

Severe pulmonary disease REF: Harrison 17''' ed chapter 303 al Antitrypsin Deficiency a1AT deficiency was first described in the late 1960s in patients with severe pulmonary disease. Sholy thereafter it was discovered to be a cause of neonatal liver disease, and now it is known to be a cause of liver disease in infancy, early childhood, adolescence, and in adults. The natural history of liver disease in alAT deficiency is quite variable. Many individuals with the ZZ genotype never develop disease throughout their entire lives. a1AT deficiency becomes apparent in adults because of screening for liver disease in individuals who have liver function test abnormalities. The only hint to diagnosis may be coexistent lung disease at a relatively young age or a family history of liver and/or lung disease. Diagnosis is established by determining a reduced serum level of alAT as well as the performance of a1AT genotyping. Liver biopsy in a1AT disease shows characteristic PAS-positive diastase-resistant globules in the periphery of the hepatic lobule. Treatment Treatment of a1AT is nonspecific and suppoive. Liver transplantation is curative. Recombinant AT administered IV has been used in patients with chronic lung disease due to 1AT deficiency but is of no benefit in patients with a1AT liver disease.